| syndroom van megalocornea, sferofakie en secundair glaucoom (aandoening) | | syndroom van megalocornea, sferofakie en secundair glaucoom | | Megalocornea, spherophakia, secondary glaucoma syndrome | | A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24. |
| | Id | 783246000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q15.8 | | Term | Overige gespecificeerde congenitale misvormingen van oog |
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| SNOMED CT to Orphanet simple map | 238763 |
| SNOMED CT to ICD-10 extended map | | Target | Q15.8 | | Rule | TRUE | | Advice | ALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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